Canonical Allele Identifier: CA1321559390
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555923A= , CM000664.2:g.202555923A= GRCh38
NC_000002.11:g.203420646A= , CM000664.1:g.203420646A= GRCh37
NC_000002.10:g.203128891A= NCBI36
NG_009363.1:g.184597A= , LRG_712:g.184597A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2258A= MANE Select ENSP00000363708.4:p.Lys753=
ENST00000638587.1:c.2189A= ENSP00000491062.1:n.2189A=
ENST00000374574.2:c.1586+3035A= ENSP00000363702.2:n.1586+3035A=
ENST00000374580.8:c.2258A= ENSP00000363708.4:p.Lys753=
NM_001204.6:c.2258A= , LRG_712t1:c.2258A= NP_001195.2:p.Lys753=
XM_011511687.1:c.2258A= XP_011509989.1:p.Lys753=
XM_011511688.1:c.1586+3035A= XP_011509990.1:n.1586+3035A=
NM_001204.7:c.2258A= MANE Select NP_001195.2:p.Lys753=